A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2812730



Internal ID21258068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:29784196..29784196hg38UCSC Ensembl
chr5:29784303..29784303hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13698950
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2812730
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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